Screening #0000048188

Individual ID 00048063
Template DNA
Technique SEQ
Tissue -
Remarks -
Variants found? 2
Owner name James Whitworth


Genes screened


AscendingSymbol     

Gene     

Chr     

Band

Transcripts     

Variants     

Unique variants     

Last updated     

Associated with diseases
FLCN folliculin 17 p11.2 1 288 206 2018-12-08 BHDS, CRC, RCC, pneumothorax, primary spontaneous
MSH2 mutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli) 2 p21 1 7706 1382 2019-09-16 HNPCC, HNPCC-1 (Lynch), MMRCS, MRTES, Adenoma sebaceum



Variants found

2 entries on 1 page. Showing entries 1 - 2.
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Chr     

Allele     

Effect     

AscendingDNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     

Gene     

Codon change     

IDbase Accession Number     

VariO/DNA     

VariO/Protein     

VariO/RNA     

Exon     

DNA change (cDNA)     

Haplotype     

ClassClinical     

RNA change     

Protein     

P-domain     

Exon_old     

DNA/Legacy     

Function/GVS     

Predict/AGVGD     

Predict/Grantham     

Predict/MutationTaster     

Predict/PolyPhen     

Predict/PolyPhenScore     

Predict/SIFT     

Predicted     

Type/DNA     

Conservation     

CpG     

Enzyme activity     

mRNA level     

Predict/CADD     

Predict/Splice     

Protein level     
2 Unknown +/. g.47641507C>T g.47414368C>T - - MSH2_000234 - - - - Germline - - - 0 - James Whitworth MSH2 - - - - - 5 NM_000251.2:c.892C>T - pathogenic r.(?) p.(Gln298*) - - - - - - - - - - - - - - - - - - -
17 Unknown +/+ g.17119709del g.17216395del 1285delC - FLCN_000030 - - - - Germline - - - 0 - James Whitworth FLCN - - - - - 11 NM_144997.5:c.1285del - pathogenic r.(?) p.(His429Thrfs*39) - - - - - - - - - - - - - - - - - - -
Legend